Epigenetic Inheritance At The Agouti Locus in Mine

Document Type


Publication Date

Summer 2019

JAX Location

In: Student Reports, Summer 2019, The Jackson Laboratory


Epigenetics is the study of changes in gene expression caused by the environment rather than genetic mutations. The viable yellow (Avy) mutation in mice is caused by the insertion of an intra-cisternal A particle (IAP) retrotransposon upstream of the agouti locus which is a common location for epigenetic modification to occur. Variable methylation of this IAP results in a mosaic of coat colors even among genetically identical individuals. This study examines the link between the methylation status of the IAP and coat color, improves upon an unbiased quantitative protocol for assessing coat color, and investigates the heritability of methylation patterns. The results indicate a strong correlation between coat color and methylation percentage; high methylation levels correspond to an agouti color, and low methylation levels correspond to a yellow color. Furthermore, coat color and methylation percentages of B6-A vy offspring do not correspond to to the coat color or methylation percentages of their B6-Avy parent. However, B6- A vy dams produce litters with a narrower range of coat colors and methylation levels than litters from B6-A vy sires. Results of this study could further understanding of epigenetic inheritance patterns in humans; which is important because epigenetic modification can have a profound effect on gene expression and human diseases.

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